DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for developmental and epileptic encephalopathy 66

Developmental and epileptic encephalopathy 66 [DOID:0080446]

A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32.

Synonyms:  developmental and epileptic encephalopathy 66,  DOID:0080446,  DEE66,  early infantile epileptic encephalopathy 66

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.